Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing

Yuan YANG; Lidan ZHU; Ying ZHANG; Shengyan LIU; Yongping CHEN; Jin WANG; Yong ZHANG; Chengmin XIE; Xi ZHANG; Yunlong LI

doi:10.16016/j.1000-5404.202006021

您当前的位置：

首页 >

文章列表页 >

Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing

更新时间：2026-01-09

- Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing
- Journal of Third Military Medical University Vol. 42, Issue 17, Pages: 1750-1756(2020)
- 作者机构：
- 作者简介：
- 基金信息：
  
  Project of Medical Scientific Research of Chongqing Health and Family Planning Commission(2015MSXM179);Project of Science and Technology Plan of Qijiang District, Chongqing(QJ2016181);Project of Science and Technology Plan of Qijiang District, Chongqing(QJ2018029)
- DOI：10.16016/j.1000-5404.202006021
  CLC：
- Received：02 June 2020，
  
  Published：15 September 2020
- 稿件说明：
移动端阅览
Yuan YANG, Lidan ZHU, Ying ZHANG, et al. Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing[J]. Journal of Third Military Medical University, 2020, 42(17): 1750-1756.
DOI：

Yuan YANG, Lidan ZHU, Ying ZHANG, et al. Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing[J]. Journal of Third Military Medical University, 2020, 42(17): 1750-1756. DOI： 10.16016/j.1000-5404.202006021.

摘要

Abstract

Objective

To investigate the genotypes and distribution characteristics of thalassemia in Chongqing.

Methods

A total of 108 140 peripheral blood samples were harvested from 36 districts and counties in Chongqing during January 2018 and November 2019. Single-tube multiplex polymerase chain reaction (PCR) and reverse spot-strip hybridization (RDB) were employed to detect 3 common α-thalassemia genotypes and 17 common β-thalassemia point mutations. The results were analyzed statistically.

Results

A total of 9 988 (9.24%) thalassemia carriers were identified

and among them

5 448 were carriers of α-thalassemia gene mutation

with a detection rate of 5.04% (5 448/108 140)

with --SEA/αα deletion genotype most common (accounting for 45.71% of α-thalassemia). Detection of 13 genotypes of β-thalassemia detected 4 368 patients with β-thalassemia gene mutations

with a detection rate of 4.04% (4 368/108 140)

and 4 359 patients of them (99.8%) were heterozygous

mainly CD41-42 (-CTTT)

CD17 (AAG>TAG) and IVS2-654(C>T). One homozygous case was firstly reported in Chongqing

and the left 8 cases (0.18%) were double heterozygous. Two types of double heterozygous mutations

CAP (A-C)/IVS2-654 (C>T) and CD17 (AAG>TAG)/βE (GAG>AAG) were not reported in China. For the 172 patients who were confirmed as composite α- and β-thalassemia carriers

the detection rate was 0.16%

and the most common genotype was -α3.7/αα with CD41-42(-CTTT). The incidence of composite α- and β-thalassemia in this study was at the middle level in China. There were totally 4 triple heterozygous mutants among the composite thalassemia

and triple heterozygous mutations of (-α4.2/αα

βE(GAG>AAG)

IVS2-654(C>T)

-α3.7/αα

-α4.2/αα

-29(A-G) and -α3.7/αα

-α4.2/αα

CD17(AAG>TAG)) were not reported yet in our country.

Conclusion

Regional characteristics is found in the gene mutation composition ratio of thalassemia in Chongqing region. The incidences of α-thalassaemia and β-thalassaemia are lower than those of Guangdong and Guangxi regions

and the incidence of composite α- and β-thalassemia is in the middle level of our country. Five mutant genotypes are identified for the first time in China.

关键词

Keywords

references

DE SANCTIS SANCTIS V KATTAMIS C CANATAN D β-thalassemia distribution in the old world: an ancient disease seen from a historical standpoint Mediterr J Hematol Infect Dis 2017 9 1 e2017018 10.4084/MJHID.2017.018 DE SANCTIS V, KATTAMIS C, CANATAN D, et al. β-thalassemia distribution in the old world: an ancient disease seen from a historical standpoint[J]. Mediterr J Hematol Infect Dis, 2017, 9(1): e2017018. DOI:10.4084/MJHID.2017.018.

杨阳张杰中国南方地区地中海贫血研究进展中国实验血液学杂志 2017 25 1 276 280 10.7534/j.issn.1009-2137.2017.01.050 杨阳, 张杰.中国南方地区地中海贫血研究进展[J].中国实验血液学杂志, 2017, 25(1):276-280. DOI:10.7534/j.issn.1009-2137.2017.01.050.

YANG Y ZHANG J Research progress on thalassemia in Southern China: review J Exp Hematol 2017 25 1 276 280 10.7534/j.issn.1009-2137.2017.01.050 YANG Y, ZHANG J. Research progress on thalassemia in Southern China: review[J]. J Exp Hematol, 2017, 25(1): 276-280. DOI:10.7534/j.issn.1009-2137.2017.01.050.

李猛项松鹤丁一中国海南省三亚地区地中海贫血基因类型分析中国实验血液学杂志 2018 26 4 1146 1150 10.7534/j.issn.1009-2137.2018.04.033 李猛, 项松鹤, 丁一, 等.中国海南省三亚地区地中海贫血基因类型分析[J].中国实验血液学杂志, 2018, 26(4): 1146-1150. DOI:10.7534/j.issn.1009-2137.2018.04.033.

LI M XIANG S H DING Y Genotype analysis of patients with thalassemia in Sanya area of Hainan Province in China J Exp Hematol 2018 26 4 1146 1150 10.7534/j.issn.1009-2137.2018.04.033 LI M, XIANG S H, DING Y, et al. Genotype analysis of patients with thalassemia in Sanya area of Hainan Province in China[J]. J Exp Hematol, 2018, 26(4): 1146-1150. DOI:10.7534/j.issn.1009-2137.2018.04.033.

MUNCIE H L JR CAMPBELL J Alpha and beta thalassemia Am Fam Physician 2009 80 4 339 344 https://www.aafp.org/afp/2009/0815/p339.html MUNCIE H L JR, CAMPBELL J.Alpha and beta thalassemia[J]. Am Fam Physician, 2009, 80(4):339-344.

CAO A KAN Y W The prevention of thalassemia Cold Spring Harb Perspect Med 2013 3 2 a011775 10.1101/cshperspect.a011775 CAO A, KAN Y W. The prevention of thalassemia[J]. Cold Spring Harb Perspect Med, 2013, 3(2): a011775. DOI:10.1101/cshperspect.a011775.

MUNKONGDEE T TANAKULMAS J BUTTHEP P Molecular epidemiology of hemoglobinopathies in Cambodia Hemoglobin 2016 40 3 163 167 10.3109/03630269.2016.1158723 MUNKONGDEE T, TANAKULMAS J, BUTTHEP P, et al. Molecular epidemiology of hemoglobinopathies in Cambodia[J]. Hemoglobin, 2016, 40(3): 163-167. DOI:10.3109/03630269.2016.1158723.

ZHENG X B LIN M YANG H Molecular epidemiological characterization and health burden of thalassemias in the Chaoshan region, People's republic of China Hemoglobin 2016 40 2 138 142 10.3109/03630269.2015.1137933 ZHENG X B, LIN M, YANG H, et al. Molecular epidemiological characterization and health burden of thalassemias in the Chaoshan region, People's republic of China[J]. Hemoglobin, 2016, 40(2): 138-142. DOI:10.3109/03630269.2015.1137933.

陈江明蔡宁李金燕 β型地中海贫血发病概况及治疗研究进展健康之友 2019 22 173 174 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=jkzy201922255 陈江明, 蔡宁, 李金燕, 等. β型地中海贫血发病概况及治疗研究进展[J].健康之友, 2019(22): 173-174.

CHEN J M CAI N LI J Y The general situation of β thalassemia and its treatment Heal Friend 2019 22 173 174 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=jkzy201922255 CHEN J M, CAI N, LI J Y, et al. The general situation of β thalassemia and its treatment[J]. Heal Friend, 2019(22): 173-174.

YIN A H LI B LUO M Y The prevalence and molecular spectrum of α- and β-globin gene mutations in 14, 332 families of Guangdong Province, China PLoS One 2014 9 2 e89855 10.1371/journal.pone.0089855 YIN A H, LI B, LUO M Y, et al. The prevalence and molecular spectrum of α- and β-globin gene mutations in 14, 332 families of Guangdong Province, China[J]. PLoS One, 2014, 9(2): e89855. DOI:10.1371/journal.pone.0089855.

徐湘民 . 中国人α和β-地中海贫血的分子基础及产前诊断 [C ] // 全国胎儿医学与产前诊断学术研讨会论文集 . 2007 : 69 - 71 .DOI: http://d.wanfangdata.com.cn/conference/6561497 . 徐湘民.中国人α和β-地中海贫血的分子基础及产前诊断[C]//全国胎儿医学与产前诊断学术研讨会论文集. 2007: 69-71.DOI: http://d.wanfangdata.com.cn/conference/6561497.

XU X M . Molecular basis and prenatal diagnosis of alpha and beta thalassemia in Chinese [C ] // Proceedings of the National Symposium on fetal medicine and prenatal diagnosis . 2007 : 69 - 71 .DOI: http://d.wanfangdata.com.cn/conference/6561497 . XU X M.Molecular basis and prenatal diagnosis of alpha and beta thalassemia in Chinese[C]//Proceedings of the National Symposium on fetal medicine and prenatal diagnosis. 2007: 69-71.DOI: http://d.wanfangdata.com.cn/conference/6561497.

于洁宪莹姚秀云重庆市学龄前儿童α-地中海贫血的分子流行病学研究中华血液学杂志 2014 35 5 419 423 10.3760/cma.j.issn.0253-2727.2014.05.009 于洁, 宪莹, 姚秀云, 等.重庆市学龄前儿童α-地中海贫血的分子流行病学研究[J].中华血液学杂志, 2014, 35(5): 419-423. DOI:10.3760/cma.j.issn.0253-2727.2014.05.009.

YU J XIAN Y YAO X Y Prevalence and molecular analysis of α-thalassemia in preschool children in Chongqing City Chin J Hematol 2014 35 5 419 423 10.3760/cma.j.issn.0253-2727.2014.05.009 YU J, XIAN Y, YAO X Y, et al. Prevalence and molecular analysis of α-thalassemia in preschool children in Chongqing City[J]. Chin J Hematol, 2014, 35(5): 419-423. DOI:10.3760/cma.j.issn.0253-2727.2014.05.009.

杜伟欧阳小峰甘承文重庆地区8 024例地中海贫血筛查结果及地贫基因型分析重庆医科大学学报 2014 39 5 694 697 10.13406/j.cnki.cyxb.000273 杜伟, 欧阳小峰, 甘承文, 等.重庆地区8 024例地中海贫血筛查结果及地贫基因型分析[J].重庆医科大学学报, 2014, 39(5): 694-697. DOI:10.13406/j.cnki.cyxb.000273.

DU W OUYANG X F GAN C W Screening results and genetic diagnosis of thalassemia in 8 024 cases in Chongqing region J Chongqing Med Univ 2014 39 5 694 697 10.13406/j.cnki.cyxb.000273 DU W, OUYANG X F, GAN C W, et al. Screening results and genetic diagnosis of thalassemia in 8 024 cases in Chongqing region[J]. J Chongqing Med Univ, 2014, 39(5): 694-697. DOI:10.13406/j.cnki.cyxb.000273.

舒华娥刘小琴重庆市开州区地中海贫血基因表达分析社区医学杂志 2019 17 8 444 446 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=sqyxzz201908005 舒华娥, 刘小琴.重庆市开州区地中海贫血基因表达分析[J].社区医学杂志, 2019, 17(8): 444-446.

SHU H E LIU X Q Gene detection report of thalassemia in Kaizhou District of Chongqing J Community Med 2019 17 8 444 446 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=sqyxzz201908005 SHU H E, LIU X Q. Gene detection report of thalassemia in Kaizhou District of Chongqing[J]. J Community Med, 2019, 17(8): 444-446.

刘沁贾政军席惠湖南地区5 018例地中海贫血基因突变类型的分析中国实验血液学杂志 2019 27 6 1938 1942 10.19746/j.cnki.issn1009-2137.2019.06.037 刘沁, 贾政军, 席惠, 等.湖南地区5 018例地中海贫血基因突变类型的分析[J].中国实验血液学杂志, 2019, 27(6): 1938-1942. DOI:10.19746/j.cnki.issn1009-2137.2019.06.037.

LIU Q JIA Z J XI H Analysis on the genotype of 5018 cases of thalassemia in Hunan area J Exp Hematol 2019 27 6 1938 1942 10.19746/j.cnki.issn1009-2137.2019.06.037 LIU Q, JIA Z J, XI H, et al. Analysis on the genotype of 5018 cases of thalassemia in Hunan area[J]. J Exp Hematol, 2019, 27(6): 1938-1942. DOI:10.19746/j.cnki.issn1009-2137.2019.06.037.

贺静曾小红徐咏梅中国云南汉族和傣族育龄人群的地中海贫血基因分析中国实验血液学杂志 2016 24 1 150 156 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=zgsyxyxzz201601029 贺静, 曾小红, 徐咏梅, 等.中国云南汉族和傣族育龄人群的地中海贫血基因分析[J].中国实验血液学杂志, 2016, 24(1):150-156.

HE J ZENG X H XU Y M Gene analysis of thalassemia in Han and Dai ethnic childbearing-aged population of Chinese Yunnan Province J Exp Hematol 2016 24 1 150 156 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=zgsyxyxzz201601029 HE J, ZENG X H, XU Y M, et al. Gene analysis of thalassemia in Han and Dai ethnic childbearing-aged population of Chinese Yunnan Province[J]. J Exp Hematol, 2016, 24(1): 150-156.

HUANG H L XU L P CHEN M H Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China Sci Rep 2019 9 1 3493 10.1038/s41598-019-40089-5 HUANG H L, XU L P, CHEN M H, et al. Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China[J]. Sci Rep, 2019, 9(1): 3493. DOI:10.1038/s41598-019-40089-5.

牛倩黄珣钡安云飞中国四川地区汉族及藏族人群地中海贫血基因分型调查四川大学学报(医学版) 2016 47 6 941 944 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=hxykdxxb201606025 牛倩, 黄珣钡, 安云飞, 等.中国四川地区汉族及藏族人群地中海贫血基因分型调查[J].四川大学学报(医学版), 2016, 47(6):941-944.

NIU Q HUANG X B AN Y F Genotype of thalassemia in Han Chinese and tibetans in Sichuan Province, China J Sichuan Univ (Med Sci Edi) 2016 47 6 941 944 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=hxykdxxb201606025 NIU Q, HUANG X B, AN Y F, et al. Genotype of thalassemia in Han Chinese and tibetans in Sichuan Province, China.[J]. J Sichuan Univ (Med Sci Edi), 2016, 47(6): 941-944.

刘富华贾艺聪陈洁晶广西地区13 589例地中海贫血筛查结果及基因突变类型分析临床血液学杂志 2015 28 6 966 969 10.13201/j.issn.1004-2806.2015.11.012 刘富华, 贾艺聪, 陈洁晶, 等.广西地区13 589例地中海贫血筛查结果及基因突变类型分析[J].临床血液学杂志, 2015, 28(6): 966-969. DOI:10.13201/j.issn.1004-2806.2015.11.012.

LIU F H JIA Y C CHEN J J Screening and gene mutation type of 13 589 cases with thalassemia in Guangxi region J Clin Hematol 2015 28 6 966 969 10.13201/j.issn.1004-2806.2015.11.012 LIU F H, JIA Y C, CHEN J J, et al. Screening and gene mutation type of 13 589 cases with thalassemia in Guangxi region[J]. J Clin Hematol, 2015, 28(6): 966-969. DOI:10.13201/j.issn.1004-2806.2015.11.012.

陈海雷沈妙娜黄燕广东地区地中海贫血基因筛查结果分析国际医药卫生导报 2019 25 5 724 726 10.3760/cma.j.issn.1007-1245.2019.05.016 陈海雷, 沈妙娜, 黄燕, 等.广东地区地中海贫血基因筛查结果分析[J].国际医药卫生导报, 2019, 25(5): 724-726. DOI:10.3760/cma.j.issn.1007-1245.2019.05.016.

CHEN H L SHEN M N HUANG Y Genetic screening results of thalassemia in Guangdong Int Med Heal Guid News 2019 25 5 724 726 10.3760/cma.j.issn.1007-1245.2019.05.016 CHEN H L, SHEN M N, HUANG Y, et al. Genetic screening results of thalassemia in Guangdong[J]. Int Med Heal Guid News, 2019, 25(5): 724-726. DOI:10.3760/cma.j.issn.1007-1245.2019.05.016.

童芳芳孙慧方小桂武汉地中海贫血流行病学调查及基因突变类型与频率分析中华实用诊断与治疗杂志 2015 29 8 759 760 10.13507/j.issn.1674-3474.2015.08.011 童芳芳, 孙慧, 方小桂.武汉地中海贫血流行病学调查及基因突变类型与频率分析[J].中华实用诊断与治疗杂志, 2015, 29(8): 759-760. DOI:10.13507/j.issn.1674-3474.2015.08.011.

TONG F F SUN H FANG X G Epidemiological survey and analysis of mutation type and gene frequency of thalassemia in Wuhan J Chin Pract Diagn Ther 2015 29 8 759 760 10.13507/j.issn.1674-3474.2015.08.011 TONG F F, SUN H, FANG X G. Epidemiological survey and analysis of mutation type and gene frequency of thalassemia in Wuhan[J]. J Chin Pract Diagn Ther, 2015, 29(8): 759-760. DOI:10.13507/j.issn.1674-3474.2015.08.011.

林靖 . 贵阳市α-地中海贫血分子流行病学研究 [D ] . 贵阳 : 贵阳医学院 , 2014 . 林靖.贵阳市α-地中海贫血分子流行病学研究[D].贵阳: 贵阳医学院, 2014.

LIN J . Molecular epidemiology of α -thalassemia in Guiyang [D ] . Guiyang : Guiyang Medical College , 2014 . LIN J. Molecular epidemiology of α -thalassemia in Guiyang[D]. Guiyang: Guiyang Medical College, 2014.

SERJEANT G R SERJEANT B E MASON K P β-thalassemia mutations in Jamaica: geographic variation in small communities Hemoglobin 2018 42 5/6 294 296 10.1080/03630269.2018.1540354 SERJEANT G R, SERJEANT B E, MASON K P, et al. β-thalassemia mutations in Jamaica: geographic variation in small communities[J]. Hemoglobin, 2018, 42(5/6): 294-296. DOI:10.1080/03630269.2018.1540354.

李东明李继慧何升广西玉林地区3 540例14岁以下儿童地中海贫血基因突变类型分析现代预防医学 2018 45 14 2542 2546, 2550 http://d.old.wanfangdata.com.cn/Periodical/xdyfyx201814012 李东明, 李继慧, 何升.广西玉林地区3 540例14岁以下儿童地中海贫血基因突变类型分析[J].现代预防医学, 2018, 45(14): 2542-2546, 2550.

LI D M LI J H HE S Gene mutation types of thalassemia in 3540 children under 14 years old in Yulin, Guangxi Mod Prev Med 2018 45 14 2542 2546, 2550 http://d.old.wanfangdata.com.cn/Periodical/xdyfyx201814012 LI D M, LI J H, HE S. Gene mutation types of thalassemia in 3540 children under 14 years old in Yulin, Guangxi[J]. Mod Prev Med, 2018, 45(14): 2542-2546, 2550.

HASSAN T ZAKARIA M FATHY M Association between genotype and disease complications in Egyptian patients with beta thalassemia: a cross-sectional study Sci Rep 2018 8 1 17730 10.1038/s41598-018-36175-9 HASSAN T, ZAKARIA M, FATHY M, et al. Association between genotype and disease complications in Egyptian patients with beta thalassemia: a cross-sectional study[J]. Sci Rep, 2018, 8(1): 17730. DOI:10.1038/s41598-018-36175-9.

Views

下载量

CSCD

Alert me when the article has been cited

提交

Tools

Publicity Resources

Health literacy and depressive symptoms and their relationship in junior high school students in Chongqing

Epidemiological characteristics and secular trend of HIV infection and AIDS in Chongqing during 1995 and 2015

Genotypic characteristics of multidrug-resistant Mycobacterium tuberculosis in Chongqing

Genotypes and clinical characteristics of α-thalassemia of neonates in Qingyuan City, Guangdong

Related Author

Hong WANG

Feng JIN

Yang PU

Qianqian HE

Rongrong LU

Hongyue YU

Wei ZHANG

Guohui WU

Related Institution

Research Center for Medicine and Social Development, Collaborative Innovation Center for Social Risk Governance in Health, School of Public Health and Management, Chongqing Medical University

Department of Military Epidemiology, College of Military Preventive Medicine, Third Military Medical University

Chongqing Center for Disease Control and Prevention

Faculty of Public Health, Chengdu Medical College

Department of Clinical Laboratory, Chongqing Public Health Medical Center

⁰